RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.
We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.
de Jong
G
G
Department of Genetics, University of Stellenbosch Medical School, Tygerberg, South Africa. GdJ@maties.sun.ac.za
Kirby
P A
PA
Muller
L M
LM
D001921:Brain / Q000473:pathology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011859:Radiography; D019082:Smith-Lemli-Opitz Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology